Narcolepsy

 

Narcolepsy

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Narcolepsy

A genetic disorder is inherited through alliterating of a gene known as mutation. Mutations may either occur randomly depending on an environmental exposure. Many genetic diseases result due to abnormality of the genome in individuals. This is a result of discrete mutation present in a single stand in the DNA of a one gene (Narins, 2005). The abnormality chromosomes engross the subtraction and addition of the whole chromosomes or a group of chromosomes. Genetically, diseases are mostly inherited from the parents and other results due to mutations in an existing gene. Narcolepsy is one of the disorders or diseases that are genetically inherited.

Narcolepsy is a type of sleeping sickness caused by a nervous system disorder. It is a result of inadequate protein known as hypocretin produced in the brain (Rosenberg, 2003). However, there is no clear identification of what makes the brain to produce less of this protein. The primary symptom is an irresistible assault of sleeping during the day. Narcolepsy usually begins at adolescence stage and only one individual is affected in about 1000 individuals. The occurrence of sleepiness is approximated to last for about 20 to minutes in a day but can even end up from two to three hours in a day.

Diagnosis can be done if sleep attacks persists more than three months though some individuals may suffer much longer like a year before they seek help. Besides sleep attacks, individuals suffering from this disease show some other symptoms such as cataplexy, vivid unreal imagery and paralysis of the body. Cataplexy is an abrupt defeat of muscle tone that may end up affecting the whole body (Goswami, Pandi-Perumal & Thorpy, 2010).  It arrays from a sagging jaw or drooping head to eventually collapse. About 70% of people suffering from narcolepsy are usually triggered by muscular sentiments arraying from fear and anger to excitement and pleasure, which aggravates catalectic attacks. Others may experience unreal imagery that makes them to keep sleeping and waking up every time.

Causes of this disease have not yet been known well. However, researchers believe that it results from a malfunction of the brain mechanisms that control individuals to wake up and sleep even during daytime. This mechanism regulates rapid eye movement and it is known to have a hereditary narcoleptic component. This dramatically increases the chance of an individual of developing the sleeping disorder. The recent research carried out indicated that about 95% of individuals suffering from narcolepsy had a genetic marker in their blood stream. The remaining percentage was due to brain damage, a problem that was caused either by an injury or by sickness.

In addition, the specific cause of narcolepsy is the reduced protein in the body known as hypocretin. Hypocretin is a substance produced in the brain and researchers believe that it is transmitted through mutation genes by parents to their children. There are conditions that can worsen narcolepsy and these conditions cause insomnia (Pub Med Health, 2009). Insomnia is a problem of lacking sleep or having non-refreshing sleep for more than one month. In adults, sleeplessness may be a result of aging, depression, frequent urination or use of alcoholism. Insomnia is seen as a risk factor because it wrens the situation of individuals with narcolepsy.

Narcolepsy is a chronic disease, which takes a longtime in an individual’s lifetime, and it does not have a known cure. The number of sleep attacks can only be reduced through allowing individuals to sleep during daytime. Those that are affected severely by the disorder should be given stimulants especially methylphenidate and Dexedrine in order to reduce their sleepiness. Those that indicate cataplexy symptoms should be given tricycle anti-depressants in order to suppress sleep of swift eye movement (Goswami et al., 2010). In addition, the hydroxybutyrate stimulant should be given to prevent nighttime sleep because it reduces both sleep attacks in daytime and cataplexy.

Those affected by narcolepsy may encounter problems including embarrassment, disturbance and even their lives are usually in danger. This is because sleep interferes with their work and relations. Many groups deal with problems of inherited diseases. One of them is Narcolepsy Association in America that gives support to individuals with narcolepsy and helps the public to be aware of the disease. Prevention of this disease is through creating public awareness especially to families suffering from narcolepsy (Rosenberg, 2003).

People with narcolepsy need to utilize certain behavioral strategies especially with their medication to avoid adverse effects. Research indicates that this disease develops in childhood and may supplement to the expansion of behavior disorders. The symptoms in adults are related to children but it is more severe when the disease develops at earlier stage. Sometimes it is hard to notice in children because they sleep most of the time even during daytime. If diagnosis and treatment is not done earlier, then it may interfere with cognitive, social and psychological qualities of the individuals (Rosenberg, 2003).

In conclusion, genetic diseases are a result of gene mutation and are mostly transferred through parents to their children. Therefore, it is advisable that those families with critical hereditary diseases seek medication early enough. Incase individuals show early signs, they should be given stimulants such as tricycle, methylphenidate and Dexedrine to the patients. Preventive measures are crucial because this disease is a life-long situation, which needs continuous medication and care. Therefore, incase one shows a symptom of narcolepsy, they should be given enough attention especially by being kept away from equipments that may cause injuries.

References

Goswami, M., Pandi-Perumal, S. R., & Thorpy, M. J. (2010). Narcolepsy: Clinical guide. New

York, NY: Humana Press.

Narins, B. (2005). The Gale encyclopedia of genetic disorders. Detroit: Thomson Gale.

Pub Med Health. (September 2, 2009). Narcolepsy. Retrieved on April 15, 2011 from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001805/

Rosenberg, R. N. (2003). The molecular and genetic basis of neurologic and psychiatric disease.

Philadelphia, PA: Butterworth-Heinemann.